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HIRSCHSPRUNG DISEASE [1 record]

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Record 1 2019-12-05

English

Subject field(s)
  • Human Diseases - Various
  • Genetics
CONT

Mowat–Wilson syndrome(MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency of the ZEB2 gene.

French

Domaine(s)
  • Maladies humaines diverses
  • Génétique
CONT

Le syndrome de Mowat-Wilson (SMW) est un syndrome congénital associant une dysmorphie faciale, une maladie de Hirschsprung, des anomalies urogénitales, des malformations cardiaques, une agénésie du corps calleux et des anomalies ophtalmologiques. [...] Le SMW est dû à des mutations ou délétions du gène ZEB2.

Spanish

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